Diagnosis and Medical Testing

Diagnosing these disorders is often a long, complicated process involving many areas of specialty medicine. Many patients suffer declining health for up to 10 years or longer before finally being diagnosed.

Mastocytosis has a set of standard diagnostic testing. Those with skin or hematological involvement seem to have the best chance of their physicians diagnosing their illness. MCAS and Idiopathic Anaphylaxis involve many tests, most of which may be inconclusive.

None of the current diagnostic tests are reliable for every patient. Some of these tests often return false-negatives. Some tests return positive results outside the normal range, yet the patient experiences few symptoms and enjoys a normal unrestricted life. Many patients have completely normal test results (eg. tryptase, urine, bone marrow) yet they are disabled by these disorders. The largest discrepancy is reported by patients who test positive for a cutaneous form of Mastocytosis, yet negative test results proving systemic involvement, even though the patients exhibit all the classic symptoms of Systemic Mastocytosis. Physicians and patients worldwide are aware of this.

Current diagnostic testing needs refinement and new tests need to be discovered that are more reliable and definitive for these disorders. Researchers worldwide are constantly working to address these issues.

Listed below are the initial standard diagnostic tests. Some are less reliable than others and many are difficult to get access to in Canada. These tests are used to determine the likelihood that a patient has Mastocytosis, MCAS or IA, or perhaps determine if it's something else entirely: